Version 2.77

Part Description

LP19739-9   MTHFR gene
The MTHFR gene (methylenetetrahydrofolate reductase (NAD(P)H)) [HGNC Gene ID:7436] is located on chromosome 1p36.3. The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009] [NCBI Gene ID:4524] Two common variants in the MTHFR gene are c.665C>T (also known as c.677C>T, and p.Ala222Val) and c.1298A>C. The 665C>T variant is heat labile, and patients who are homozygous for this variant have higher serum levels of homocysteine and lower levels of folate. Individuals who have one copy of each of the two variants have similar clinical manifestations, while those who are homozygous for 1298A>C do not have elevated homocysteine levels. [NCBI Books: NBK66131] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
MTHFR gene targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
MTHFR gene Mut Anl Bld/T
Display Name
MTHFR gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
MTHFR gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.14
Last Updated
Version 2.73
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both
Common Test Rank Get Info
2798

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) determinación de mutaciones del gen MTHFR:presencia o identidad:punto en el tiempo:tejido, no especificado:Narrativo:genética molecular
es-ES Spanish (Spain) Gen MTHFR Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen MTHFR:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) MTHFR gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) MTHFR, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene MTHFR Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) MTHFR 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL Dutch (Netherlands) MTHFR-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen MTHFR gen targeted
pt-BR Portuguese (Brazil) MTHFR análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: Vascular risk; NADPH; 5,10-methylenetetrahydrofolate reductase gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) MTHFR ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) MTHFR geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) MTHFR 基因 突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: 5,10-亚甲基四氢叶酸还原酶基因;NADPH;血管危险(Vascular risk);血管风险(Vascular risk);还原型烟酰胺腺嘌呤二核苷酸磷酸;还原型辅酶 II 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因突变分析 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=38415-6